Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
Goji
K
K
Department of Endocrinology and Metabolism, Kobe Children's Hospital, Japan.
Nishijima
E
E
Tsugawa
C
C
Nishio
H
H
Pokharel
R K
RK
Matsuo
M
M
D019943:Amino Acid Substitution; D001483:Base Sequence; D001665:Binding Sites; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics*; D017354:Point Mutation; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors; D004247:DNA